CCDC18

protein-coding

coiled-coil domain containing 18

Gene summary

Predicted to be involved in positive regulation of adipose tissue development. Located in centriolar satellite. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001378204.1

Inheritance

—

ClinVar variants

U:177B:25

Top phenotype

CCDC18-related disorder

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr1:93,179,919-93,278,730

External References & Databases

Ensembl (ENSG00000122483)

Transcript & Mutation Effects

hg38 • Region Span ~98.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC18 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 166

CCDC18-related disorderTotal: 22

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001378204.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	7 clinvar	5 clinvar	13
missense			169 clinvar	10 clinvar	3 clinvar	182
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	177	17	8	202

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 69 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001378204.1	RefSeq	NP_001365133.1	28	MANE Select
ENST00000690025.1	Ensembl	ENSP00000510597.1	28	MANE Select
NM_001306076.1	RefSeq	NP_001293005.1	28	Standard
NM_206886.4	RefSeq	NP_996769.3	27	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370276
Coding exons: 29
Length: 98812
Individuals with no LoFs: 124444
Homozygous LoFs: 1
Heterozygous LoFs: 349
Defined: 124794
p: 0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.61	587	708	0.830	0.0000333	10021
Missense (PolyPhen)		173	193.47	0.89417		3166
Synonymous	0.952	226	245	0.923	0.0000116	2519
Loss of Function	1.80	67	84.9	0.789	0.00000413	1147

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00098	0.00097	rare
Latino/Admixed American	0.0013	0.0010	notable
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0027	0.0025	notable
Finnish	0.00070	0.00070	rare
European (Non-Finnish)	0.00078	0.00076	rare
South Asian	0.0051	0.0048	notable
Other	0.0012	0.0012	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0956

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0215